1
|
(HPO:0001182)
|
Tapered finger |
Very frequent [Orphanet]
|
|
|
|
93 / 7739
|
2
|
(HPO:0003298)
|
Spina bifida occulta |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
5
|
(HPO:0000262)
|
Turricephaly |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
6
|
(HPO:0001199)
|
Triphalangeal thumb |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
7
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
8
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
9
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
10
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
11
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
12
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
13
|
(HPO:0000695)
|
Natal tooth |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
14
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
15
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
16
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
17
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
18
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
19
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
20
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
21
|
(HPO:0000340)
|
Sloping forehead |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
22
|
(HPO:0000453)
|
Choanal atresia |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
23
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
24
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
25
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
26
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
27
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
28
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
29
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
30
|
(HPO:0009465)
|
Ulnar deviation of finger |
Frequent [Orphanet]
|
|
|
|
48 / 7739
|
31
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
32
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
33
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
34
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
35
|
(HPO:0009796)
|
Branchial cyst |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
36
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
37
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
38
|
(HPO:0000632)
|
Lacrimation abnormality |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
39
|
(HPO:0000263)
|
Oxycephaly |
|
|
|
|
10 / 7739
|
40
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
41
|
(HPO:0000925)
|
Abnormality of the vertebral column |
|
|
|
|
20 / 7739
|
42
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
43
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
44
|
(HPO:0006958)
|
Abnormal auditory evoked potentials |
|
|
|
|
12 / 7739
|
45
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
46
|
(HPO:0010105)
|
Short first metatarsal |
|
|
|
|
4 / 7739
|
47
|
(OMIM)
|
Thumbs digitalized |
|
|
|
|
2 / 7739
|
48
|
(OMIM)
|
Thumb, distal phalanx partial duplication |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Digits bulbous |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Great toes proximally placed |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Lumbar vertebrae tall |
|
|
|
|
2 / 7739
|
52
|
(OMIM)
|
Interpedicular distance increased |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Nares anteverted |
|
|
|
|
1 / 7739
|
54
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
55
|
(OMIM)
|
Malleus malformed |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Incus malformed |
|
|
|
|
1 / 7739
|
57
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
58
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
59
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
60
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
61
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
62
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
63
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|